RIDDLE syndrome
Information
- Disease name
- RIDDLE syndrome
- Disease ID
- DOID:0090113
- Description
- "A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29." [url:https\://www.ncbi.nlm.nih.gov/pubmed/29255463, url:https\://www.ncbi.nlm.nih.gov/pubmed/30122534, url:https\://www.omim.org/entry/611943]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- ICD10CM:D82.8
- Cross Reference ID (Disease Ontology)
- MESH:C567453
- Cross Reference ID (Disease Ontology)
- MIM:611943
- Cross Reference ID (Disease Ontology)
- ORDO:420741
- Exact Synonym (Disease Ontology)
- Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
- Exact Synonym (Disease Ontology)
- RNF168 deficiency